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46 XX Testicular Disorder in an Infertile Male

Year 2017, Volume: 19 Issue: 3, 220 - 223, 18.12.2017
https://doi.org/10.24938/kutfd.286106

Abstract

46 XX male
sexual disorder is a very rare disease. SRY (sex-determining region Y) located
in the Y chromosome is a main sex-specific gen location. It is thought that the
translocation of Y chromosome part containing this gene region to the X
chromosome is responsible for the disorder. A 35 year-old male patient was
admitted to the outpatient clinic with complaints of infertility and decreased
sexual desire. Physical examination revealed wrinkles on the face, lack of
hair, short stature as well as small testicles. Hypergonadotropic hypogonadism
and azoospermia were detected in the patient. The patient's karyotype analysis
was reported as 46 XX. SRY gene analysis was positive. These patients do not
have spermatogenesis, thus sperm can not be obtained with testis biopsy. The
main treatment of the disease is testosterone replacement therapy. In the
differential diagnosis of patients with primary hypogonadism presenting with
infertility, this rare disease should be considered.

References

  • 1. De la Chapelle A, Hortling H, Niemi M, Wennström J. XX chromosomes in a human male. First case. Acta Med Scand. 1964; 175 (Suppl 412): 25-38.
  • 2. De la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981; 58: 105-16.
  • 3. Boucekkine C, Toublanc JE, Abbas N, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol.1994; 40: 733-42
  • 4. Lopez M, Torres L, Mendez JP, et al. Clinical traits and molecular findings in 46 XX males. Clin Genet. 1995; 48: 29-34.
  • 5. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46 XX male syndrome, compared with 47 XXY Klinefelter patients. J Clin Endocrinol Metab. 2007; 92: 3458-65.

İNFERTİL BİR ERKEKTE 46XX TESTİKÜLER BOZUKLUK

Year 2017, Volume: 19 Issue: 3, 220 - 223, 18.12.2017
https://doi.org/10.24938/kutfd.286106

Abstract

46 XX erkek
cinsel gelişim bozukluğu çok nadir görülen bir hastalıktır. Y kromozomuna
yerleşmiş olan SRY (sex-determining region Y) geni cinsiyet belirleyen gendir.
Bu gen bölgesini içeren Y kromozomunun bir parçasının X kromozomuna transloke
olmasıyla hastalığın geliştiği düşünülmektedir. Otuz beş yaşında erkek hasta
infertilite, cinsel istekte azalma şikayetleriyle polikliniğimize başvurdu.
Fizik muayenesinde yüzde kırışıklıklar, kıllanma azlığı, kısa boy, küçük
testisler mevcuttu. Hastada hipergonadotropik hipogonadizm ve azospermi
saptandı. Hastanın karyotip analizi 46 XX olarak rapor edildi. SRY gen analizi
pozitif bulundu. Bu hastalarda spermatogenez olmadığından testis biyopsisi ile
sperm elde edilemez. Hastalığın başlıca tedavisi testosteron yerine koyma
tedavisidir. İnfertilite ile başvuran primer hipogonadizmli hastaların ayırıcı
tanısında bu nadir hastalık dikkate
alınmalıdır.

References

  • 1. De la Chapelle A, Hortling H, Niemi M, Wennström J. XX chromosomes in a human male. First case. Acta Med Scand. 1964; 175 (Suppl 412): 25-38.
  • 2. De la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981; 58: 105-16.
  • 3. Boucekkine C, Toublanc JE, Abbas N, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol.1994; 40: 733-42
  • 4. Lopez M, Torres L, Mendez JP, et al. Clinical traits and molecular findings in 46 XX males. Clin Genet. 1995; 48: 29-34.
  • 5. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46 XX male syndrome, compared with 47 XXY Klinefelter patients. J Clin Endocrinol Metab. 2007; 92: 3458-65.
There are 5 citations in total.

Details

Subjects Health Care Administration
Journal Section Case Reports
Authors

Zafer Pekkolay

Faruk Kılınç This is me

Mazhar Müslüm Tuna

Hikmet Soylu This is me

Alpaslan Kemal Tuzcu

Publication Date December 18, 2017
Submission Date December 30, 2016
Published in Issue Year 2017 Volume: 19 Issue: 3

Cite

APA Pekkolay, Z., Kılınç, F., Tuna, M. M., Soylu, H., et al. (2017). 46 XX Testicular Disorder in an Infertile Male. The Journal of Kırıkkale University Faculty of Medicine, 19(3), 220-223. https://doi.org/10.24938/kutfd.286106
AMA Pekkolay Z, Kılınç F, Tuna MM, Soylu H, Tuzcu AK. 46 XX Testicular Disorder in an Infertile Male. Kırıkkale Uni Med J. December 2017;19(3):220-223. doi:10.24938/kutfd.286106
Chicago Pekkolay, Zafer, Faruk Kılınç, Mazhar Müslüm Tuna, Hikmet Soylu, and Alpaslan Kemal Tuzcu. “46 XX Testicular Disorder in an Infertile Male”. The Journal of Kırıkkale University Faculty of Medicine 19, no. 3 (December 2017): 220-23. https://doi.org/10.24938/kutfd.286106.
EndNote Pekkolay Z, Kılınç F, Tuna MM, Soylu H, Tuzcu AK (December 1, 2017) 46 XX Testicular Disorder in an Infertile Male. The Journal of Kırıkkale University Faculty of Medicine 19 3 220–223.
IEEE Z. Pekkolay, F. Kılınç, M. M. Tuna, H. Soylu, and A. K. Tuzcu, “46 XX Testicular Disorder in an Infertile Male”, Kırıkkale Uni Med J, vol. 19, no. 3, pp. 220–223, 2017, doi: 10.24938/kutfd.286106.
ISNAD Pekkolay, Zafer et al. “46 XX Testicular Disorder in an Infertile Male”. The Journal of Kırıkkale University Faculty of Medicine 19/3 (December 2017), 220-223. https://doi.org/10.24938/kutfd.286106.
JAMA Pekkolay Z, Kılınç F, Tuna MM, Soylu H, Tuzcu AK. 46 XX Testicular Disorder in an Infertile Male. Kırıkkale Uni Med J. 2017;19:220–223.
MLA Pekkolay, Zafer et al. “46 XX Testicular Disorder in an Infertile Male”. The Journal of Kırıkkale University Faculty of Medicine, vol. 19, no. 3, 2017, pp. 220-3, doi:10.24938/kutfd.286106.
Vancouver Pekkolay Z, Kılınç F, Tuna MM, Soylu H, Tuzcu AK. 46 XX Testicular Disorder in an Infertile Male. Kırıkkale Uni Med J. 2017;19(3):220-3.

This Journal is a Publication of Kırıkkale University Faculty of Medicine.